The US FDA have issued an open letter ordering 23andMe (CA, USA) to “immediately discontinue” the selling of their saliva-based personal genetic tests.
23andMe, founded in 2006, provides direct-to-consumer genetic testing from US$99. In 2008 their saliva test kit, which estimates an individual‘s predisposition for more than 90 traits, won the Time magazines best invention of the year.
On the 22 November 2013, the FDA sent 23andMe an open letter stating that the company were marketing their “Saliva Collection Kit and Personal Genome Service without marketing clearance or approval” and ordered for the discontinuation of these services.
The letter, from Alberto Gutierrez, director of the FDA‘s center for devices and radiological health, said “FDA is concerned about the public health consequences of inaccurate results from the personal genome service device – the main purpose of compliance with FDA‘s regulatory requirements is to ensure that the tests work.” The letter continued “Patients relying on such tests may begin to self-manage their treatment through dose changes or even abandon certain therapies depending on the outcome of the assessment.”
23andMe responded, saying “We recognize that we have not met the FDA‘s expectations regarding timeline and communication regarding our submission.” The company continued “Our relationship with the FDA is extremely important to us and we are committed to fully engaging with them to address their concerns.”
As of 6 December 2013, 23andMe have suspended their “health-related genetic tests to comply with the US FDA directive to discontinue new consumer access” while the regulatory review process is carried out. The company is still providing health-related results access for customers who purchased the services before the 22 November 2013.
Information accurate as of publication.
– Written by Theo Bond
Illustrated by Hannah Morton
Sources: US FDA letter: www.fda.gov/ICECI/EnforcementActions/WarningLetters/2013/ucm376296.htm (Accessed 6 December 2013); 23andMe website: www.23andme.com (Accessed 6 December 2013); BBC News: www.bbc.co.uk/news/technology-25100878 (Accessed 6 December 2013).
Assurex Health (OH, USA) have recently announced the release of the newest addition to its pharmacogenomic test panel. GeneSight® MTHFR has been developed to establish the alleles at the C677T polymorphism in the MTHFR gene in order to predict an individual‘s ability to convert folic acid into l-methylfolate, a parameter that has been linked with a higher incidence of depression.
Assurex Health is a personalized medicine company specializing in pharmacogenomics with a goal to aid the determination of appropriate treatment methods for patients suffering from neuropsychiatric disorders according to their genetic make up.
The Clinical Development team evaluated 112 published articles and clinical studies investigating the link between C677T polymorphisms and circulating homocysteine and folate levels. The team observed a statistically significant correlation between reduced conversion of folic acid and the T allele in 90% of the studies analyzed. These patients may then benefit from folic acid or folate supplementation.
GeneSight MTHFR joins three other GeneSight tests already available for patients with anxiety, depression, bipolar disorder, schizophrenia, ADHD and chronic pain. DNA is collected via a sample cheek swab and matched with the appropriate treatment information for the management of their condition.
Bryan Dechairo, Senior Vice President of Medical Affairs and Clinical Development at Assurex Health stated that “the addition of GeneSight MTHFR to Assurex Health‘s suite of neuropsychiatric personalized medicine products will further enable clinicians to personalize and optimize treatment for patients suffering from mental illness. Prescribing a genetically informed treatment regimen helps the clinician better manage the patient‘s disease and improve patient outcomes.”
– Written by Caroline Telfer
Source: New MTHFR Gene Test Extends Holistic Pharmacogenomics Approach to Treating Depression: www.prnewswire.com/news-releases/new-mthfr-gene-test-extends-holistic-pharmacogenomics-approach-to-treating-depression-230544791.html
In a recent breakthrough for personalized medicine, the US FDA has granted Illumina (CA, USA) marketing authorization for its MiSeqDx system. This is the first high-throughput DNA sequencing analyzer to receive this approval. Premarket clearance was also granted for the MiSeqDx Cystic Fibrosis 139-Variant Assay, the MiSeqDx Cystic Fibrosis Clinical Sequencing Assay and the MiSeqDx Universal Kit.
The MiSeqDx benchtop sequencer enables users to run diagnostic or research applications on one simple system. The MiSeqDx Cystic Fibrosis 139-Variant Assay can simultaneously isolate and analyze 139 clinically relevant mutations associated with the cystic fibrosis transmembrane conductance regulator gene, including all cystic fibrosis-causing variants recommended for carrier screening of the disease. The MiSeqDx Cystic Fibrosis Clinical Sequencing Assay generates highly accurate sequencing data for protein-coding regions of the CFTR gene and the MiSeqDx Universal kit is designed to enable clinical laboratories to develop their own diagnostic tests on an in vitro diagnostic platform.
Senior Vice President and General Manager of Illumina‘s diagnostics business, Greg Heath, stated that “With the FDA clearance of the MiSeqDx, Illumina is providing clinicians and clinical laboratories with the tools needed to obtain comprehensive and reliable results from a DNA sequencing analyzer and enabling them to create and deploy next-generation sequencing-based molecular diagnostic tests for cystic fibrosis and a wide range of other applications.”
While speaking on the topic, the Director of the FDA‘s Office of In vitro Diagnostics and Radiological Health, Alberto Gutierrez, declared that “Before next-generation sequencing, sequencing genes associated with a particular disease was a long and costly process. Today, we have the capability to read and interpret large segments of DNA very quickly in a single test and this information-rich technology is becoming more accessible for use by physicians in the care of their patients.”
– Written by Caroline Telfer
Sources: Illumina gets FDA greenlight for first set of next generation sequencing devices: http://medcitynews.com/2013/11/fda-oksmarketing-authorization-for-devices-screen-diseases-in-personalized-medicine-milestone/#ixzz2lg7ILJw0; FDA Clears Illumina‘s MiSeqDx as First Clinical NGS System: www.genengnews.com/gen-news-highlights/fda-clears-illumina-s-miseqdx-as-first-clinical-ngs-system/81249137
A new addition has been made to the list of gene variants that may have prognostic relevance in breast cancer.
Hanna Tuhkanen and colleagues at the University of Eastern Finland (Finland) have presented the results of a study on the link between variants of the matriptase-2 gene (TMPRSS6), their expression and risk and prognosis of breast cancer in the International Journal of Cancer.
The TMPRSS6 gene had been previously identified as a possible contributor to the risk of breast cancer. Tuhkanen and colleagues genotyped 13 different TMPRSS6 polymorphisms in 462 cases of breast cancer and 480 controls; moreover, they also evaluated the gene and protein expression in part of the tumors and they linked their results with survival and clinicopathological characteristics of the tumors.
The authors identified a specific variant, TMPRSS6 variant rs2543519, which was correlated with risk of breast cancer. When survival was considered, four TMPRSS6 variants (rs2543519, rs2235324, rs14213212 and rs733655) were associated with poorer prognosis because they were correlated with reduced survival. Low TMPRSS6 gene expression was correlated with triple-negative breast cancer, whereas low TMPRSS6 protein expression was detected in undifferentiated, large and ductal tumors.
The results of this study show that the TMPRSS6 gene is associated with breast cancer risk and survival and that a decrease in matriptase-2 expression can be observed as the tumor progresses. Thus, screening for variants of the TMPRSS6 gene, its expression and the levels of matriptase-2 could help to identify tumors with worse prognosis.
– Written by Marco De Ambrogi
Source: Tuhkanen H, Hartikainen JM, Soini Y et al. Matriptase-2 gene (TMPRSS6) variants associate with breast cancer survival, and reduced expression is related to triple-negative breast cancer. Int. J. Cancer 133(10), 2334–2340 (2013).